Aliases & Classifications for Genetic Prion Diseases

MalaCards integrated aliases for Genetic Prion Diseases:

Name: Genetic Prion Diseases 23 28
Transmissible Spongiform Encephalopathies 23 50 3
Tses 23 3
Prion Diseases 69

Characteristics:

GeneReviews:

23
Penetrance The prnp pathogenic variants p.glu200lys and p.val210ile are commonly associated with a variable but generally age-dependent penetrance such that the older the individual, the greater likelihood of his/her manifesting the disease. thus, it is not uncommon to encounter a situation in which the parents and other relatives of an affected individual may be unaffected but have a prnp pathogenic variant [kovács et al 2005]. interestingly, the p.val180ile variant appears to occur almost exclusively in individuals presenting with cjd in later life [kovács et al 2005]...

Summaries for Genetic Prion Diseases

NINDS : 50 Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of rare degenerative brain disorders characterized by tiny holes that give the brain a "spongy" appearance. These holes can be seen when brain tissue is viewed under a microscope. Creutzfeldt-Jakob disease (CJD) is the most well-known of the human TSEs. It is a rare type of dementia that affects about one in every one million people each year. Other human TSEs include kuru, fatal familial insomnia (FFI), and Gerstmann-Straussler-Scheinker disease (GSS). Kuru was identified in people of an isolated tribe in Papua New Guinea and has now almost disappeared. FFI and GSS are extremely rare hereditary diseases, found in just a few families around the world. A new type of CJD, called variant CJD (vCJD), was first described in 1996 and has been found in Great Britain and several other European countries. The initial symptoms of vCJD are different from those of classic CJD and the disorder typically occurs in younger patients. Research suggests that vCJD may have resulted from human consumption of beef from cattle with a TSE disease called bovine spongiform encephalopathy (BSE), also known as "mad cow disease." Other TSEs found in animals include scrapie, which affects sheep and goats; chronic wasting disease, which affects elk and deer; and transmissible mink encephalopathy. In a few rare cases, TSEs have occurred in other mammals such as zoo animals. These cases are probably caused by contaminated feed. CJD and other TSEs also can be transmitted experimentally to mice and other animals in the laboratory. Research suggests that TSEs are caused by an abnormal version of a protein called a prion (prion is short forproteinaceous infectious particle). Prion proteins occur in both a normal form, which is a harmless protein found in the body's cells, and in an infectious form, which causes disease. The harmless and infectious forms of the prion protein are nearly identical, but the infectious form takes on a different folded shape from the normal protein. Human TSEs can occur three ways: sporadically; as hereditary diseases; or through transmission from infected individuals. Sporadic TSEs may develop because some of a person's normal prions spontaneously change into the infectious form of the protein and then alter the prions in other cells in a chain reaction. Inherited cases arise from a change, or mutation, in the prion protein gene that causes the prions to be shaped in an abnormal way. This genetic change may be transmitted to an individual's offspring. Transmission of TSEs from infected individuals is relatively rare. TSEs cannot be transmitted through the air or through touching or most other forms of casual contact. However, they may be transmitted through contact with infected tissue, body fluids, or contaminated medical instruments. Normal sterilization procedures such as boiling or irradiating materials do not prevent transmission of TSEs. Symptoms of TSEs vary, but they commonly include personality changes, psychiatric problems such as depression, lack of coordination, and/or an unsteady gait. Patients also may experience involuntary jerking movements called myoclonus, unusual sensations, insomnia, confusion, or memory problems. In the later stages of the disease, patients have severe mental impairment and lose the ability to move or speak.

MalaCards based summary : Genetic Prion Diseases, also known as transmissible spongiform encephalopathies, is related to dementia and prion disease. An important gene associated with Genetic Prion Diseases is PRNP (Prion Protein), and among its related pathways/superpathways is Neuroscience. Affiliated tissues include brain.

CDC : 3 Prion diseases or transmissible spongiform encephalopathies (TSEs) are a family of rare progressive neurodegenerative disorders that affect both humans and animals. They are distinguished by long incubation periods, characteristic spongiform changes associated with neuronal loss, and a failure to induce inflammatory response.

GeneReviews: NBK1229

Related Diseases for Genetic Prion Diseases

Diseases related to Genetic Prion Diseases via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 dementia 28.8 APOE PRNP
2 prion disease 10.4
3 cerebral amyloid angiopathy, cst3-related 9.7 APOE PRNP
4 aphasia 9.7 APOE PRNP
5 vascular dementia 9.7 APOE PRNP
6 diarrhea 9.7
7 cerebritis 9.7
8 scrapie 9.7
9 neuropathy 9.7
10 dementia, lewy body 9.7 APOE PRNP
11 creutzfeldt-jakob disease 9.7 APOE PRNP
12 nervous system disease 9.6 APOE PRNP
13 central nervous system disease 9.6 APOE PRNP
14 frontotemporal dementia 9.4 APOE PRNP

Graphical network of the top 20 diseases related to Genetic Prion Diseases:



Diseases related to Genetic Prion Diseases

Symptoms & Phenotypes for Genetic Prion Diseases

Drugs & Therapeutics for Genetic Prion Diseases

Search Clinical Trials , NIH Clinical Center for Genetic Prion Diseases

Genetic Tests for Genetic Prion Diseases

Genetic tests related to Genetic Prion Diseases:

# Genetic test Affiliating Genes
1 Genetic Prion Diseases 28

Anatomical Context for Genetic Prion Diseases

MalaCards organs/tissues related to Genetic Prion Diseases:

38
Brain

Publications for Genetic Prion Diseases

Articles related to Genetic Prion Diseases:

(show all 23)
# Title Authors Year
1
Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy. ( 27716661 )
2017
2
Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature. ( 27943639 )
2017
3
Transgenic mice recapitulate the phenotypic heterogeneity of genetic prion diseases without developing prion infectivity: Role of intracellular PrP retention in neurotoxicity. ( 26864450 )
2016
4
Clinical findings and diagnosis in genetic prion diseases in Germany. ( 26076917 )
2015
5
Correction: PrPST, a Soluble, Protease Resistant and Truncated PrP Form Features in the Pathogenesis of a Genetic Prion Disease. ( 26193641 )
2015
6
The Features of Genetic Prion Diseases Based on Chinese Surveillance Program. ( 26488179 )
2015
7
Genetic prion disease: no role for the immune system in disease pathogenesis? ( 25239861 )
2014
8
Reversible symptoms and clearance of mutant prion protein in an inducible model of a genetic prion disease in Drosophila melanogaster. ( 24686303 )
2014
9
Ascertainment bias causes false signal of anticipation in genetic prion disease. ( 25279981 )
2014
10
Presence of voltage-gated potassium channel complex antibody in a case of genetic prion disease. ( 24903967 )
2014
11
Reduced cerebral blood flow in genetic prion disease with PRNP D178N-129M mutation: An arterial spin labeling MRI study. ( 25220284 )
2014
12
PrP(ST), a soluble, protease resistant and truncated PrP form features in the pathogenesis of a genetic prion disease. ( 23922744 )
2013
13
Relationships between clinicopathological features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases. ( 23555862 )
2013
14
Epitope scanning indicates structural differences in brain-derived monomeric and aggregated mutant prion proteins related to genetic prion diseases. ( 23808898 )
2013
15
Copper is toxic to PrP-ablated mice and exacerbates disease in a mouse model of E200K genetic prion disease. ( 22198568 )
2012
16
Activation of the macroautophagic system in scrapie-infected experimental animals and human genetic prion diseases. ( 22874564 )
2012
17
Genetic prion disease-associated myelodysplasia and SIADH in siblings. ( 22097952 )
2011
18
Comprehensive neuropathologic analysis of genetic prion disease associated with the E196K mutation in PRNP reveals phenotypic heterogeneity. ( 21293298 )
2011
19
Genetic prion disease with codon 196 PRNP mutation: clinical and pathological findings. ( 21232818 )
2011
20
ApoE distribution and family history in genetic prion diseases in Germany. ( 18157657 )
2008
21
Genetic prion disease: the EUROCJD experience. ( 16187142 )
2005
22
Transmissible and genetic prion diseases share a common pathway of neurodegeneration. ( 10617204 )
1999
23
Genetic Prion Diseases ( 20301407 )
1993

Variations for Genetic Prion Diseases

ClinVar genetic disease variations for Genetic Prion Diseases:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRNP NM_000311.4(PRNP) NT expansion Pathogenic rs193922906 GRCh37 Chromosome 20, 4680026: 4680049
2 PRNP NM_000311.4(PRNP): c.305C> T (p.Pro102Leu) single nucleotide variant Pathogenic rs74315401 GRCh37 Chromosome 20, 4680171: 4680171
3 PRNP NM_000311.4(PRNP): c.350C> T (p.Ala117Val) single nucleotide variant Pathogenic rs74315402 GRCh37 Chromosome 20, 4680216: 4680216
4 PRNP NM_000311.4(PRNP): c.598G> A (p.Glu200Lys) single nucleotide variant Pathogenic rs28933385 GRCh37 Chromosome 20, 4680464: 4680464
5 PRNP NM_000311.4(PRNP): c.532G> A (p.Asp178Asn) single nucleotide variant Pathogenic rs74315403 GRCh37 Chromosome 20, 4680398: 4680398
6 PRNP NM_000311.4(PRNP): c.593T> C (p.Phe198Ser) single nucleotide variant Pathogenic rs74315405 GRCh37 Chromosome 20, 4680459: 4680459
7 PRNP NM_000311.4(PRNP): c.650A> G (p.Gln217Arg) single nucleotide variant Pathogenic rs74315406 GRCh37 Chromosome 20, 4680516: 4680516
8 PRNP NM_000311.4(PRNP): c.628G> A (p.Val210Ile) single nucleotide variant Pathogenic rs74315407 GRCh37 Chromosome 20, 4680494: 4680494
9 PRNP NM_000311.4(PRNP): c.314C> T (p.Pro105Leu) single nucleotide variant Pathogenic rs11538758 GRCh37 Chromosome 20, 4680180: 4680180
10 PRNP NM_000311.4(PRNP): c.538G> A (p.Val180Ile) single nucleotide variant Pathogenic/Likely pathogenic rs74315408 GRCh37 Chromosome 20, 4680404: 4680404
11 PRNP NM_000311.4(PRNP): c.547A> G (p.Thr183Ala) single nucleotide variant Pathogenic rs74315411 GRCh37 Chromosome 20, 4680413: 4680413
12 PRNP NM_000311.4(PRNP): c.560A> G (p.His187Arg) single nucleotide variant Pathogenic rs74315413 GRCh37 Chromosome 20, 4680426: 4680426
13 PRNP NM_000311.4(PRNP): c.313C> A (p.Pro105Thr) single nucleotide variant Pathogenic rs74315414 GRCh37 Chromosome 20, 4680179: 4680179
14 PRNP NM_000311.4(PRNP): c.313C> T (p.Pro105Ser) single nucleotide variant Pathogenic rs74315414 GRCh37 Chromosome 20, 4680179: 4680179
15 PRNP NM_000311.4(PRNP): c.435T> G (p.Tyr145Ter) single nucleotide variant Pathogenic rs80356710 GRCh37 Chromosome 20, 4680301: 4680301
16 PRNP NM_000311.4(PRNP): c.478C> T (p.Gln160Ter) single nucleotide variant Pathogenic rs80356711 GRCh37 Chromosome 20, 4680344: 4680344

Expression for Genetic Prion Diseases

Search GEO for disease gene expression data for Genetic Prion Diseases.

Pathways for Genetic Prion Diseases

Pathways related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.16 APOE PRNP

GO Terms for Genetic Prion Diseases

Cellular components related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 8.96 APOE PRNP
2 amyloid-beta complex GO:0106003 8.62 APOE PRNP

Biological processes related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to oxidative stress GO:0006979 9.26 APOE PRNP
2 long-term memory GO:0007616 9.16 APOE PRNP
3 negative regulation of amyloid-beta formation GO:1902430 8.96 APOE PRNP
4 negative regulation of long-term synaptic potentiation GO:1900272 8.62 APOE PRNP

Molecular functions related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 amyloid-beta binding GO:0001540 8.62 APOE PRNP

Sources for Genetic Prion Diseases

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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